Results 81 to 90 of about 2,179 (131)

Case Report: Prenatal Diagnosis of Nemaline Myopathy. [PDF]

Front Pediatr, 2022
Liu D, Yu J, Wang X, Yang Y, Yu L, Zeng S, Zhang M, Xu G.   +7 more
europepmc   +1 more source

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. [PDF]

Int J Mol Sci, 2022
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M.   +17 more
europepmc   +1 more source

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
europepmc   +1 more source

Parents as First Responders: Experiences of Emergency Care in Children with Nemaline Myopathy: A Qualitative Study. [PDF]

Nurs Rep
Merchán Arjona R, Velarde-García JF, Pacheco Del Cerro E, Meneses Monroy A.   +3 more
europepmc   +1 more source

Proteomic profiling of sporadic late-onset nemaline myopathy. [PDF]

Ann Clin Transl Neurol, 2022
Naddaf E, Dasari S, Selcen D, Charlesworth MC, Johnson KL, Mauermann ML, Kourelis T.   +6 more
europepmc   +1 more source

Nemaline myopathy with scoliosis: a case report. [PDF]

Front Pediatr
Huang J, Zhang C, Li J, Wang H, Cui X, Wang J, Zhang B, Wang X, Lin D, Zhao J, Wen J.   +10 more
europepmc   +1 more source

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. [PDF]

Eur J Hum Genet, 2023
Haghighi A, Alvandi Z, Nilipour Y, Haghighi A, Kornreich R, Nafissi S, Desnick RJ.   +6 more
europepmc   +1 more source

A Case of Nebulin-Related Nemaline Myopathy With Asymmetric Distal Lower Limb Weakness. [PDF]

Cureus
Mizutani H, Misumi Y, Hamanaka K, Tawara N, Miyatake S, Matsumoto N, Ueda M.   +6 more
europepmc   +1 more source

Different Mouse Models of Nemaline Myopathy Harboring Acta1 Mutations Display Differing Abnormalities Related to Mitochondrial Biology. [PDF]

Am J Pathol, 2023
Tinklenberg JA, Slick RA, Sutton J, Zhang L, Meng H, Beatka MJ, Vanden Avond M, Prom MJ, Ott E, Montanaro F, Heisner J, Toro R, Hardeman EC, Geurts AM, Stowe DF, Hill RB, Lawlor MW.   +16 more
europepmc   +1 more source